Variant report

Variant	esv3504205
Chromosome Location	chr6:74050262-74051880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187085992	chr6:74050277-74050278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568440989	chr6:74050330-74050331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371473778	chr6:74050358-74050359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375136775	chr6:74050359-74050360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112394417	chr6:74050366-74050367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113342268	chr6:74050370-74050371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112394808	chr6:74050399-74050400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112583463	chr6:74050405-74050406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577101344	chr6:74050410-74050411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544052950	chr6:74050417-74050418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562722832	chr6:74050420-74050421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574548279	chr6:74050441-74050442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191283851	chr6:74050463-74050464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs503322	chr6:74050476-74050477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs560145569	chr6:74050498-74050499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369036275	chr6:74050521-74050522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552192713	chr6:74050524-74050525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182609142	chr6:74050527-74050528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375906922	chr6:74050548-74050549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11447668	chr6:74050565-74050566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202133357	chr6:74050566-74050567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187691277	chr6:74050592-74050593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146205308	chr6:74050621-74050622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79962948	chr6:74050704-74050705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535508778	chr6:74050705-74050706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371934147	chr6:74050774-74050775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558516464	chr6:74050793-74050794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112921453	chr6:74050823-74050824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547482631	chr6:74050829-74050830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551758085	chr6:74050856-74050857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565875343	chr6:74050905-74050906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148433591	chr6:74050950-74050951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541886512	chr6:74050970-74050971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577033318	chr6:74050971-74050972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577187107	chr6:74051004-74051005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79130904	chr6:74051043-74051044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150510463	chr6:74051087-74051088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4502891	chr6:74051156-74051157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556041566	chr6:74051169-74051170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562826	chr6:74051222-74051223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374394905	chr6:74051275-74051276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193145718	chr6:74051282-74051283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56932153	chr6:74051338-74051339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184866819	chr6:74051414-74051415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542665149	chr6:74051460-74051461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561426321	chr6:74051516-74051517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545461698	chr6:74051536-74051537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528625430	chr6:74051539-74051540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187622831	chr6:74051614-74051615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57625010	chr6:74051645-74051646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74050000-74053600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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